loading...| Preferred Name |
Mandibulofacial Dysostosis |
| Synonyms |
Dysostoses, Mandibulofacial |
| Definitions |
A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by a slant of the palpebral fissures, COLOBOMA of the lower lid, MICROGNATHIA and hypoplasia of the ZYGOMATIC ARCHES, and CONGENITAL MICROTIA. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed) |
| ID |
http://purl.bioontology.org/ontology/MESH/D008342 |
| altLabel |
Dysostoses, Mandibulofacial Treacher Collins Franceschetti Syndrome Dysostosis, Mandibulofacial Mandibulofacial Dysostoses Dysostosis, Mandibulofacial (MFD1) Treacher Collins-Franceschetti Syndrome Franceschetti-Zwahlen-Klein Syndromes Treacher Collins Syndrome Syndrome, Treacher Collins-Franceschetti Mandibulofacial Dysostoses (MFD1) Treacher Collins-Franceschetti Syndromes Dysostoses, Mandibulofacial (MFD1) Mandibulofacial Dysostosis (MFD1) Syndrome, Treacher Collins Franceschetti-Zwahlen-Klein Syndrome Franceschetti Zwahlen Klein Syndrome Syndrome, Franceschetti-Zwahlen-Klein Syndromes, Franceschetti-Zwahlen-Klein Syndromes, Treacher Collins-Franceschetti |
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
| cui |
C0242387 |
| DC |
1 |
| definition |
A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by a slant of the palpebral fissures, COLOBOMA of the lower lid, MICROGNATHIA and hypoplasia of the ZYGOMATIC ARCHES, and CONGENITAL MICROTIA. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed) |
| DX |
19660101 |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C538183 http://purl.bioontology.org/ontology/MESH/C538186 http://purl.bioontology.org/ontology/MESH/C564267 http://purl.bioontology.org/ontology/MESH/C565420 http://purl.bioontology.org/ontology/MESH/C566345 http://purl.bioontology.org/ontology/MESH/C536311 http://purl.bioontology.org/ontology/MESH/C535707 http://purl.bioontology.org/ontology/MESH/C538182 http://purl.bioontology.org/ontology/MESH/C538185 http://purl.bioontology.org/ontology/MESH/C535676 http://purl.bioontology.org/ontology/MESH/C538184 http://purl.bioontology.org/ontology/MESH/C537680 http://purl.bioontology.org/ontology/MESH/C537102 |
| MDA |
19990101 |
| MMR |
20220818 |
| MN |
C05.116.099.370.231.576 C11.270.147.750 C05.660.207.231.576 C16.131.621.207.231.576 |
| notation |
D008342 |
| prefLabel |
Mandibulofacial Dysostosis |
| TERMUI |
T024849 T812145 T024848 T842599 T844088 |
| TH |
UNK (19XX) NLM (1966) NLM (2014) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |
| subClassOf |